Canonical Allele Identifier: CA645593158

Gene: CREBBP

Linked Data

• COSMIC: COSM1578556

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3770953_3770959del , CM000678.2:g.3770953_3770959del	GRCh38
NC_000016.9:g.3820954_3820960del , CM000678.1:g.3820954_3820960del	GRCh37
NC_000016.8:g.3760955_3760961del	NCBI36
NG_009873.1:g.114162_114168del
NG_009873.2:g.114755_114761del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2491_2497del MANE Select	ENSP00000262367.5:p.Asn831SerfsTer16
ENST00000262367.9:c.2491_2497del	ENSP00000262367.5:p.Asn831SerfsTer16
ENST00000382070.7:c.2377_2383del	ENSP00000371502.3:p.Asn793SerfsTer16
ENST00000570939.2:c.1096_1102del	ENSP00000461002.2:p.Asn366SerfsTer16
NM_001079846.1:c.2377_2383del	NP_001073315.1:p.Asn793SerfsTer16
NM_004380.2:c.2491_2497del	NP_004371.2:p.Asn831SerfsTer16
XM_005255124.3:c.2446_2452del	XP_005255181.1:p.Asn816SerfsTer16
XM_005255125.3:c.2464-1606_2464-1600del	XP_005255182.1:n.2464-1606_2464-1600del
XM_006720848.2:c.2491_2497del	XP_006720911.1:p.Asn831SerfsTer16
XM_011522380.1:c.2437_2443del	XP_011520682.1:p.Asn813SerfsTer16
XM_011522381.1:c.1738_1744del	XP_011520683.1:p.Asn580SerfsTer16
XM_011522382.1:c.2491_2497del	XP_011520684.1:p.Asn831SerfsTer16
XM_005255124.4:c.2446_2452del	XP_005255181.1:p.Asn816SerfsTer16
XM_005255125.4:c.2464-1606_2464-1600del	XP_005255182.1:n.2464-1606_2464-1600del
XM_006720848.3:c.2491_2497del	XP_006720911.1:p.Asn831SerfsTer16
XM_011522381.2:c.1738_1744del	XP_011520683.1:p.Asn580SerfsTer16
XM_011522382.3:c.2491_2497del	XP_011520684.1:p.Asn831SerfsTer16
XM_017022944.1:c.2485_2491del	XP_016878433.1:p.Asn829SerfsTer16
NM_004380.3:c.2491_2497del MANE Select	NP_004371.2:p.Asn831SerfsTer16